Nijmegen Breakage Syndrome
What's New
Last Posted: Oct 07, 2022
- Newborn screening for severe combined immunodeficiency: The results of the first pilot TREC and KREC study in Ukraine with involving of 10,350 neonates.
Boyarchuk Oksana et al. Frontiers in immunology 2022 13999664 - Spectrum of Hematological Malignancies, Clonal Evolution and Outcomes in 144 Mayo Clinic Patients with Germline Predisposition Syndromes.
St Martin Emma et al. American journal of hematology 2021 - Chromosome instability syndromes.
Taylor A Malcolm R et al. Nature reviews. Disease primers 2019 Sep 5(1) 64 - Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders.
Walsh Michael F et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2017 Jun 23(11) e23-e31 - Identification of a novel NBN truncating mutation in a family with hereditary prostate cancer.
Zuhlke KA, et al. Familial cancer 2012 8 - Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR.
Borte Stephan, et al. Blood 2012 3 (11) 2552-5 - Nijmegen breakage syndrome
From NCATS Genetic and Rare Diseases Information Center - Variations in the NBN/NBS1 gene and the risk of breast cancer in non-BRCA1/2 French Canadian families with high risk of breast cancer.
Desjardins Sylvie, et al. BMC cancer 2009 0 (1) 181 - Mutational inactivation of the nijmegen breakage syndrome gene (NBS1) in glioblastomas is associated with multiple TP53 mutations.
Watanabe Takuya, et al. Journal of neuropathology and experimental neurology 2009 2 (2) 210-5 - Mutations in the Nijmegen breakage syndrome gene in medulloblastomas.
Huang Jian, et al. Clinical cancer research : an official journal of the American Association for Cancer Research 2008 7 (13) 4053-8 - Frequency of 657del(5) mutation of the NBS1 gene in the Czech population by polymerase chain reaction with sequence specific primers.
Drábek Jirí, et al. Cancer genetics and cytogenetics 2002 10 (2) 157-9 - Mutations and molecular variants of the NBS1 gene in non-Hodgkin lymphoma.
Cerosaletti Karen M, et al. Genes, chromosomes & cancer 2002 11 (3) 282-6
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- Page last reviewed:Feb 1, 2024
- Page last updated:May 09, 2024
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